NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala) AND Lip and oral cavity carcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 30, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001255685.2

Allele description [Variation Report for NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)]

NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)

Gene:

PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.32

Genomic location:

Preferred name:

NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)

HGVS:

NC_000003.12:g.179218295A>C
NG_012113.2:g.74773A>C
NM_006218.4:c.1625A>CMANE SELECT
NP_006209.2:p.Glu542Ala
LRG_310:g.74773A>C
NC_000003.11:g.178936083A>C

Protein change:

E542A

Links:

dbSNP: rs1057519927

NCBI 1000 Genomes Browser:

rs1057519927

Molecular consequence:

NM_006218.4:c.1625A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lip and oral cavity carcinoma
Identifiers:: MONDO: MONDO:0023644; MedGen: C0220641

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001432250	Institute of Medical Sciences, Banaras Hindu University	no assertion criteria provided	Pathogenic (Apr 30, 2019)	somatic	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001432250

Institute of Medical Sciences, Banaras Hindu University

no assertion criteria provided

Pathogenic
(Apr 30, 2019)

somatic

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Mutational spectrum of tobacco associated oral squamous carcinoma and its therapeutic significance.

Batta N, Pandey M.

World J Surg Oncol. 2019 Nov 27;17(1):198. doi: 10.1186/s12957-019-1741-2.

PubMed [citation]

PMID:: 31775759
PMCID:: PMC6882338

Details of each submission

From Institute of Medical Sciences, Banaras Hindu University, SCV001432250.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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